|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
Mutations in APP and PS-1 and PS-2 genes that are associated with early-onset, autosomal, dominantly inherited AD, in addition to the at-risk gene polymorphisms responsible for late-onset AD, all indicate a direct and early role of Aβ in the pathogenesis of AD.
|
27135718 |
2016 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
Mutations in APP, PS1, and PS2 genes are causes for early onset AD.
|
24669286 |
2014 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
While genetic mutations in amyloid precursor protein and presenilin-1 and -2 (PS1 and PS2) genes cause early-onset familial AD, the etiology of sporadic AD is not fully understood.
|
23138650 |
2013 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
The session took place in three stages: 1) a round of individual contributions from participants addressing areas that they considered of interest; 2) a general recommendation whereby studies about prevention and early diagnosis and treatment were to be initiated targeting persons bearing the dominant mutations in AbetaPP, PS-1 and PS-2 genes that result in development of AD; and 3) a proposal was made to the effect that a network be set up to facilitate interaction among those participating in the meeting.
|
20505238 |
2010 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.
|
12770698 |
2003 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
An increased production of Abeta-42 by mutation of PS2 genes promotes caspase expression and is associated with the Cox-2 found in the brain of AD patients.
|
12039862 |
2002 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
Biomarker |
BEFREE |
These findings suggest that the aberrant splicing of the PS2 gene may be implicated in the neuropathology of sporadic AD.
|
11031265 |
2001 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
Although the mechanism(s) whereby the PS-1 and PS-2 gene mutations operate remains unclear, it seems from the present study that the effect of the PS-2 gene mutation on the brain is much less severe, at least as far as Abeta deposition is concerned, than that of the PS-1 mutation, which seems to confer a much earlier and a much more aggressive development of AD.
|
9005865 |
1997 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
Biomarker |
BEFREE |
Autosomal dominant familial AD (FAD), linked to mutations in presenilin (PS1 and PS2) genes or the amyloid precursor protein (APP) gene, shows brain abnormalities (e.g., neurofibrillary tangles, deposits of .-amyloid A., and death of subsets of neurons) similar to those that occur in sporadic AD, the risk of which is enhanced by the presence of one or two copies of apolipoprotein E4 (apoE4) alleles.
|
9683997 |
1997 |
|
TAS2R64P
|
Alzheimer's Disease
|
0.100 |
GeneticVariation |
BEFREE |
Eleven early-onset dementia families, all with affected individuals who have either presented clinical symptoms of early onset familial Alzheimer's disease (EOFAD) or have been confirmed to have EOFAD by autopsy, and two early onset cases with biopsy-confirmed AD pathology, were screened for missense mutations in the entire coding region of presenilin-1 (PS-1) and -2 (PS-2) genes.
|
9172170 |
1997 |